Mutations Position Table
SORL1 M2068 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| M2068I |
Substitution | Substitution | Missense | Coding | Exon 46 | Unknown. |
Unknown. |
|
| M2068V |
Substitution | Substitution | Missense | Coding | Exon 46 | Unknown. |
Unknown; predicted tolerated in silico. |
Campion et al., 2019 |
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